Neurofibromatosis type 1, severe cervical spinal kyphotic deformity, and vertebral arteriovenous fistula presenting with tetraplegia: case report and literature review

Abstract

Introduction: Neurofibromatosis type 1 (NF-1) is an autosomal-dominant disorder affecting 1 in 3000 individuals worldwide. NF-1 is characterized by café-au-lait macules and peripheral nerve sheath tumors. Patients with NF-1 frequently exhibit bony dysplasia, including spinal deformities such as scoliosis or kyphosis, pseudarthrosis of the tibia, and soft tissue tumors. Some patients with NF-1 exhibit spinal changes, including acutely angled cervical kyphosis. Prior studies have also described arteriovenous (AV) fistulas in individuals with NF-1, as well as a predisposition to cervical fistulas which display symptoms secondary to mass effect, rather than hemorrhage. Sometimes, fistulas are incidentally detected during evaluations for cervical kyphotic deformities.

Case presentation: The case herein describes a patient with NF-1 who exhibited a severe cervical spinal kyphotic deformity and a vertebral AV fistula. The patient initially presented with neck pain that radiated to all four limbs and resulted in limb weakness.

Discussion: Spinal kyphosis is common in patients with NF-1, and if dystrophic changes are noted on plain radiographs, MRI should be considered for the further survey of potential spinal vascular lesions.

Fig. 1. Radiograph and MRI of the patient.

A Lateral radiograph of the cervical spine revealing C3–C5 deformities with kyphotic angle at the C4 level. B MRI of C-spine revealing one irregular lesion with flow-void signal in the left thecal disc at the C1–C3 level. C MRA showing the irregular vascular structure of the left vertebral artery at the C3 level and a suspected arteriovenous fistula of the left vertebral artery.